NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs) AND Familial cancer of breast

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000577081.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)]

NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3211dup (p.Glu1071fs)

HGVS:

NC_000017.11:g.43092320dup
NG_005905.2:g.125664dup
NG_087068.1:g.1302dup
NM_001407571.1:c.2998dup
NM_001407581.1:c.3211dup
NM_001407582.1:c.3211dup
NM_001407583.1:c.3211dup
NM_001407585.1:c.3211dup
NM_001407587.1:c.3208dup
NM_001407590.1:c.3208dup
NM_001407591.1:c.3208dup
NM_001407593.1:c.3211dup
NM_001407594.1:c.3211dup
NM_001407596.1:c.3211dup
NM_001407597.1:c.3211dup
NM_001407598.1:c.3211dup
NM_001407602.1:c.3211dup
NM_001407603.1:c.3211dup
NM_001407605.1:c.3211dup
NM_001407610.1:c.3208dup
NM_001407611.1:c.3208dup
NM_001407612.1:c.3208dup
NM_001407613.1:c.3208dup
NM_001407614.1:c.3208dup
NM_001407615.1:c.3208dup
NM_001407616.1:c.3211dup
NM_001407617.1:c.3211dup
NM_001407618.1:c.3211dup
NM_001407619.1:c.3211dup
NM_001407620.1:c.3211dup
NM_001407621.1:c.3211dup
NM_001407622.1:c.3211dup
NM_001407623.1:c.3211dup
NM_001407624.1:c.3211dup
NM_001407625.1:c.3211dup
NM_001407626.1:c.3211dup
NM_001407627.1:c.3208dup
NM_001407628.1:c.3208dup
NM_001407629.1:c.3208dup
NM_001407630.1:c.3208dup
NM_001407631.1:c.3208dup
NM_001407632.1:c.3208dup
NM_001407633.1:c.3208dup
NM_001407634.1:c.3208dup
NM_001407635.1:c.3208dup
NM_001407636.1:c.3208dup
NM_001407637.1:c.3208dup
NM_001407638.1:c.3208dup
NM_001407639.1:c.3211dup
NM_001407640.1:c.3211dup
NM_001407641.1:c.3211dup
NM_001407642.1:c.3211dup
NM_001407644.1:c.3208dup
NM_001407645.1:c.3208dup
NM_001407646.1:c.3202dup
NM_001407647.1:c.3202dup
NM_001407648.1:c.3088dup
NM_001407649.1:c.3085dup
NM_001407652.1:c.3211dup
NM_001407653.1:c.3133dup
NM_001407654.1:c.3133dup
NM_001407655.1:c.3133dup
NM_001407656.1:c.3133dup
NM_001407657.1:c.3133dup
NM_001407658.1:c.3133dup
NM_001407659.1:c.3130dup
NM_001407660.1:c.3130dup
NM_001407661.1:c.3130dup
NM_001407662.1:c.3130dup
NM_001407663.1:c.3133dup
NM_001407664.1:c.3088dup
NM_001407665.1:c.3088dup
NM_001407666.1:c.3088dup
NM_001407667.1:c.3088dup
NM_001407668.1:c.3088dup
NM_001407669.1:c.3088dup
NM_001407670.1:c.3085dup
NM_001407671.1:c.3085dup
NM_001407672.1:c.3085dup
NM_001407673.1:c.3085dup
NM_001407674.1:c.3088dup
NM_001407675.1:c.3088dup
NM_001407676.1:c.3088dup
NM_001407677.1:c.3088dup
NM_001407678.1:c.3088dup
NM_001407679.1:c.3088dup
NM_001407680.1:c.3088dup
NM_001407681.1:c.3088dup
NM_001407682.1:c.3088dup
NM_001407683.1:c.3088dup
NM_001407684.1:c.3211dup
NM_001407685.1:c.3085dup
NM_001407686.1:c.3085dup
NM_001407687.1:c.3085dup
NM_001407688.1:c.3085dup
NM_001407689.1:c.3085dup
NM_001407690.1:c.3085dup
NM_001407691.1:c.3085dup
NM_001407692.1:c.3070dup
NM_001407694.1:c.3070dup
NM_001407695.1:c.3070dup
NM_001407696.1:c.3070dup
NM_001407697.1:c.3070dup
NM_001407698.1:c.3070dup
NM_001407724.1:c.3070dup
NM_001407725.1:c.3070dup
NM_001407726.1:c.3070dup
NM_001407727.1:c.3070dup
NM_001407728.1:c.3070dup
NM_001407729.1:c.3070dup
NM_001407730.1:c.3070dup
NM_001407731.1:c.3070dup
NM_001407732.1:c.3070dup
NM_001407733.1:c.3070dup
NM_001407734.1:c.3070dup
NM_001407735.1:c.3070dup
NM_001407736.1:c.3070dup
NM_001407737.1:c.3070dup
NM_001407738.1:c.3070dup
NM_001407739.1:c.3070dup
NM_001407740.1:c.3067dup
NM_001407741.1:c.3067dup
NM_001407742.1:c.3067dup
NM_001407743.1:c.3067dup
NM_001407744.1:c.3067dup
NM_001407745.1:c.3067dup
NM_001407746.1:c.3067dup
NM_001407747.1:c.3067dup
NM_001407748.1:c.3067dup
NM_001407749.1:c.3067dup
NM_001407750.1:c.3070dup
NM_001407751.1:c.3070dup
NM_001407752.1:c.3070dup
NM_001407838.1:c.3067dup
NM_001407839.1:c.3067dup
NM_001407841.1:c.3067dup
NM_001407842.1:c.3067dup
NM_001407843.1:c.3067dup
NM_001407844.1:c.3067dup
NM_001407845.1:c.3067dup
NM_001407846.1:c.3067dup
NM_001407847.1:c.3067dup
NM_001407848.1:c.3067dup
NM_001407849.1:c.3067dup
NM_001407850.1:c.3070dup
NM_001407851.1:c.3070dup
NM_001407852.1:c.3070dup
NM_001407853.1:c.2998dup
NM_001407854.1:c.3211dup
NM_001407858.1:c.3211dup
NM_001407859.1:c.3211dup
NM_001407860.1:c.3208dup
NM_001407861.1:c.3208dup
NM_001407862.1:c.3010dup
NM_001407863.1:c.3088dup
NM_001407874.1:c.3007dup
NM_001407875.1:c.3007dup
NM_001407879.1:c.3001dup
NM_001407881.1:c.3001dup
NM_001407882.1:c.3001dup
NM_001407884.1:c.3001dup
NM_001407885.1:c.3001dup
NM_001407886.1:c.3001dup
NM_001407887.1:c.3001dup
NM_001407889.1:c.3001dup
NM_001407894.1:c.2998dup
NM_001407895.1:c.2998dup
NM_001407896.1:c.2998dup
NM_001407897.1:c.2998dup
NM_001407898.1:c.2998dup
NM_001407899.1:c.2998dup
NM_001407900.1:c.3001dup
NM_001407902.1:c.3001dup
NM_001407904.1:c.3001dup
NM_001407906.1:c.3001dup
NM_001407907.1:c.3001dup
NM_001407908.1:c.3001dup
NM_001407909.1:c.3001dup
NM_001407910.1:c.3001dup
NM_001407915.1:c.2998dup
NM_001407916.1:c.2998dup
NM_001407917.1:c.2998dup
NM_001407918.1:c.2998dup
NM_001407919.1:c.3088dup
NM_001407920.1:c.2947dup
NM_001407921.1:c.2947dup
NM_001407922.1:c.2947dup
NM_001407923.1:c.2947dup
NM_001407924.1:c.2947dup
NM_001407925.1:c.2947dup
NM_001407926.1:c.2947dup
NM_001407927.1:c.2947dup
NM_001407928.1:c.2947dup
NM_001407929.1:c.2947dup
NM_001407930.1:c.2944dup
NM_001407931.1:c.2944dup
NM_001407932.1:c.2944dup
NM_001407933.1:c.2947dup
NM_001407934.1:c.2944dup
NM_001407935.1:c.2947dup
NM_001407936.1:c.2944dup
NM_001407937.1:c.3088dup
NM_001407938.1:c.3088dup
NM_001407939.1:c.3088dup
NM_001407940.1:c.3085dup
NM_001407941.1:c.3085dup
NM_001407942.1:c.3070dup
NM_001407943.1:c.3067dup
NM_001407944.1:c.3070dup
NM_001407945.1:c.3070dup
NM_001407946.1:c.2878dup
NM_001407947.1:c.2878dup
NM_001407948.1:c.2878dup
NM_001407949.1:c.2878dup
NM_001407950.1:c.2878dup
NM_001407951.1:c.2878dup
NM_001407952.1:c.2878dup
NM_001407953.1:c.2878dup
NM_001407954.1:c.2875dup
NM_001407955.1:c.2875dup
NM_001407956.1:c.2875dup
NM_001407957.1:c.2878dup
NM_001407958.1:c.2875dup
NM_001407959.1:c.2830dup
NM_001407960.1:c.2830dup
NM_001407962.1:c.2827dup
NM_001407963.1:c.2830dup
NM_001407964.1:c.3067dup
NM_001407965.1:c.2707dup
NM_001407966.1:c.2323dup
NM_001407967.1:c.2323dup
NM_001407968.1:c.788-181dup
NM_001407969.1:c.788-181dup
NM_001407970.1:c.788-1288dup
NM_001407971.1:c.788-1288dup
NM_001407972.1:c.785-1288dup
NM_001407973.1:c.788-1288dup
NM_001407974.1:c.788-1288dup
NM_001407975.1:c.788-1288dup
NM_001407976.1:c.788-1288dup
NM_001407977.1:c.788-1288dup
NM_001407978.1:c.788-1288dup
NM_001407979.1:c.788-1288dup
NM_001407980.1:c.788-1288dup
NM_001407981.1:c.788-1288dup
NM_001407982.1:c.788-1288dup
NM_001407983.1:c.788-1288dup
NM_001407984.1:c.785-1288dup
NM_001407985.1:c.785-1288dup
NM_001407986.1:c.785-1288dup
NM_001407990.1:c.788-1288dup
NM_001407991.1:c.785-1288dup
NM_001407992.1:c.785-1288dup
NM_001407993.1:c.788-1288dup
NM_001408392.1:c.785-1288dup
NM_001408396.1:c.785-1288dup
NM_001408397.1:c.785-1288dup
NM_001408398.1:c.785-1288dup
NM_001408399.1:c.785-1288dup
NM_001408400.1:c.785-1288dup
NM_001408401.1:c.785-1288dup
NM_001408402.1:c.785-1288dup
NM_001408403.1:c.788-1288dup
NM_001408404.1:c.788-1288dup
NM_001408406.1:c.791-1297dup
NM_001408407.1:c.785-1288dup
NM_001408408.1:c.779-1288dup
NM_001408409.1:c.710-1288dup
NM_001408410.1:c.647-1288dup
NM_001408411.1:c.710-1288dup
NM_001408412.1:c.710-1288dup
NM_001408413.1:c.707-1288dup
NM_001408414.1:c.710-1288dup
NM_001408415.1:c.710-1288dup
NM_001408416.1:c.707-1288dup
NM_001408418.1:c.671-1288dup
NM_001408419.1:c.671-1288dup
NM_001408420.1:c.671-1288dup
NM_001408421.1:c.668-1288dup
NM_001408422.1:c.671-1288dup
NM_001408423.1:c.671-1288dup
NM_001408424.1:c.668-1288dup
NM_001408425.1:c.665-1288dup
NM_001408426.1:c.665-1288dup
NM_001408427.1:c.665-1288dup
NM_001408428.1:c.665-1288dup
NM_001408429.1:c.665-1288dup
NM_001408430.1:c.665-1288dup
NM_001408431.1:c.668-1288dup
NM_001408432.1:c.662-1288dup
NM_001408433.1:c.662-1288dup
NM_001408434.1:c.662-1288dup
NM_001408435.1:c.662-1288dup
NM_001408436.1:c.665-1288dup
NM_001408437.1:c.665-1288dup
NM_001408438.1:c.665-1288dup
NM_001408439.1:c.665-1288dup
NM_001408440.1:c.665-1288dup
NM_001408441.1:c.665-1288dup
NM_001408442.1:c.665-1288dup
NM_001408443.1:c.665-1288dup
NM_001408444.1:c.665-1288dup
NM_001408445.1:c.662-1288dup
NM_001408446.1:c.662-1288dup
NM_001408447.1:c.662-1288dup
NM_001408448.1:c.662-1288dup
NM_001408450.1:c.662-1288dup
NM_001408451.1:c.653-1288dup
NM_001408452.1:c.647-1288dup
NM_001408453.1:c.647-1288dup
NM_001408454.1:c.647-1288dup
NM_001408455.1:c.647-1288dup
NM_001408456.1:c.647-1288dup
NM_001408457.1:c.647-1288dup
NM_001408458.1:c.647-1288dup
NM_001408459.1:c.647-1288dup
NM_001408460.1:c.647-1288dup
NM_001408461.1:c.647-1288dup
NM_001408462.1:c.644-1288dup
NM_001408463.1:c.644-1288dup
NM_001408464.1:c.644-1288dup
NM_001408465.1:c.644-1288dup
NM_001408466.1:c.647-1288dup
NM_001408467.1:c.647-1288dup
NM_001408468.1:c.644-1288dup
NM_001408469.1:c.647-1288dup
NM_001408470.1:c.644-1288dup
NM_001408472.1:c.788-1288dup
NM_001408473.1:c.785-1288dup
NM_001408474.1:c.587-1288dup
NM_001408475.1:c.584-1288dup
NM_001408476.1:c.587-1288dup
NM_001408478.1:c.578-1288dup
NM_001408479.1:c.578-1288dup
NM_001408480.1:c.578-1288dup
NM_001408481.1:c.578-1288dup
NM_001408482.1:c.578-1288dup
NM_001408483.1:c.578-1288dup
NM_001408484.1:c.578-1288dup
NM_001408485.1:c.578-1288dup
NM_001408489.1:c.578-1288dup
NM_001408490.1:c.575-1288dup
NM_001408491.1:c.575-1288dup
NM_001408492.1:c.578-1288dup
NM_001408493.1:c.575-1288dup
NM_001408494.1:c.548-1288dup
NM_001408495.1:c.545-1288dup
NM_001408496.1:c.524-1288dup
NM_001408497.1:c.524-1288dup
NM_001408498.1:c.524-1288dup
NM_001408499.1:c.524-1288dup
NM_001408500.1:c.524-1288dup
NM_001408501.1:c.524-1288dup
NM_001408502.1:c.455-1288dup
NM_001408503.1:c.521-1288dup
NM_001408504.1:c.521-1288dup
NM_001408505.1:c.521-1288dup
NM_001408506.1:c.461-1288dup
NM_001408507.1:c.461-1288dup
NM_001408508.1:c.452-1288dup
NM_001408509.1:c.452-1288dup
NM_001408510.1:c.407-1288dup
NM_001408511.1:c.404-1288dup
NM_001408512.1:c.284-1288dup
NM_001408513.1:c.578-1288dup
NM_001408514.1:c.578-1288dup
NM_007294.4:c.3211dupMANE SELECT
NM_007297.4:c.3070dup
NM_007298.4:c.788-1288dup
NM_007299.4:c.788-1288dup
NM_007300.4:c.3211dup
NP_001394500.1:p.Glu1000fs
NP_001394510.1:p.Glu1071fs
NP_001394511.1:p.Glu1071fs
NP_001394512.1:p.Glu1071fs
NP_001394514.1:p.Glu1071fs
NP_001394516.1:p.Glu1070fs
NP_001394519.1:p.Glu1070fs
NP_001394520.1:p.Glu1070fs
NP_001394522.1:p.Glu1071fs
NP_001394523.1:p.Glu1071fs
NP_001394525.1:p.Glu1071fs
NP_001394526.1:p.Glu1071fs
NP_001394527.1:p.Glu1071fs
NP_001394531.1:p.Glu1071fs
NP_001394532.1:p.Glu1071fs
NP_001394534.1:p.Glu1071fs
NP_001394539.1:p.Glu1070fs
NP_001394540.1:p.Glu1070fs
NP_001394541.1:p.Glu1070fs
NP_001394542.1:p.Glu1070fs
NP_001394543.1:p.Glu1070fs
NP_001394544.1:p.Glu1070fs
NP_001394545.1:p.Glu1071fs
NP_001394546.1:p.Glu1071fs
NP_001394547.1:p.Glu1071fs
NP_001394548.1:p.Glu1071fs
NP_001394549.1:p.Glu1071fs
NP_001394550.1:p.Glu1071fs
NP_001394551.1:p.Glu1071fs
NP_001394552.1:p.Glu1071fs
NP_001394553.1:p.Glu1071fs
NP_001394554.1:p.Glu1071fs
NP_001394555.1:p.Glu1071fs
NP_001394556.1:p.Glu1070fs
NP_001394557.1:p.Glu1070fs
NP_001394558.1:p.Glu1070fs
NP_001394559.1:p.Glu1070fs
NP_001394560.1:p.Glu1070fs
NP_001394561.1:p.Glu1070fs
NP_001394562.1:p.Glu1070fs
NP_001394563.1:p.Glu1070fs
NP_001394564.1:p.Glu1070fs
NP_001394565.1:p.Glu1070fs
NP_001394566.1:p.Glu1070fs
NP_001394567.1:p.Glu1070fs
NP_001394568.1:p.Glu1071fs
NP_001394569.1:p.Glu1071fs
NP_001394570.1:p.Glu1071fs
NP_001394571.1:p.Glu1071fs
NP_001394573.1:p.Glu1070fs
NP_001394574.1:p.Glu1070fs
NP_001394575.1:p.Glu1068fs
NP_001394576.1:p.Glu1068fs
NP_001394577.1:p.Glu1030fs
NP_001394578.1:p.Glu1029fs
NP_001394581.1:p.Glu1071fs
NP_001394582.1:p.Glu1045fs
NP_001394583.1:p.Glu1045fs
NP_001394584.1:p.Glu1045fs
NP_001394585.1:p.Glu1045fs
NP_001394586.1:p.Glu1045fs
NP_001394587.1:p.Glu1045fs
NP_001394588.1:p.Glu1044fs
NP_001394589.1:p.Glu1044fs
NP_001394590.1:p.Glu1044fs
NP_001394591.1:p.Glu1044fs
NP_001394592.1:p.Glu1045fs
NP_001394593.1:p.Glu1030fs
NP_001394594.1:p.Glu1030fs
NP_001394595.1:p.Glu1030fs
NP_001394596.1:p.Glu1030fs
NP_001394597.1:p.Glu1030fs
NP_001394598.1:p.Glu1030fs
NP_001394599.1:p.Glu1029fs
NP_001394600.1:p.Glu1029fs
NP_001394601.1:p.Glu1029fs
NP_001394602.1:p.Glu1029fs
NP_001394603.1:p.Glu1030fs
NP_001394604.1:p.Glu1030fs
NP_001394605.1:p.Glu1030fs
NP_001394606.1:p.Glu1030fs
NP_001394607.1:p.Glu1030fs
NP_001394608.1:p.Glu1030fs
NP_001394609.1:p.Glu1030fs
NP_001394610.1:p.Glu1030fs
NP_001394611.1:p.Glu1030fs
NP_001394612.1:p.Glu1030fs
NP_001394613.1:p.Glu1071fs
NP_001394614.1:p.Glu1029fs
NP_001394615.1:p.Glu1029fs
NP_001394616.1:p.Glu1029fs
NP_001394617.1:p.Glu1029fs
NP_001394618.1:p.Glu1029fs
NP_001394619.1:p.Glu1029fs
NP_001394620.1:p.Glu1029fs
NP_001394621.1:p.Glu1024fs
NP_001394623.1:p.Glu1024fs
NP_001394624.1:p.Glu1024fs
NP_001394625.1:p.Glu1024fs
NP_001394626.1:p.Glu1024fs
NP_001394627.1:p.Glu1024fs
NP_001394653.1:p.Glu1024fs
NP_001394654.1:p.Glu1024fs
NP_001394655.1:p.Glu1024fs
NP_001394656.1:p.Glu1024fs
NP_001394657.1:p.Glu1024fs
NP_001394658.1:p.Glu1024fs
NP_001394659.1:p.Glu1024fs
NP_001394660.1:p.Glu1024fs
NP_001394661.1:p.Glu1024fs
NP_001394662.1:p.Glu1024fs
NP_001394663.1:p.Glu1024fs
NP_001394664.1:p.Glu1024fs
NP_001394665.1:p.Glu1024fs
NP_001394666.1:p.Glu1024fs
NP_001394667.1:p.Glu1024fs
NP_001394668.1:p.Glu1024fs
NP_001394669.1:p.Glu1023fs
NP_001394670.1:p.Glu1023fs
NP_001394671.1:p.Glu1023fs
NP_001394672.1:p.Glu1023fs
NP_001394673.1:p.Glu1023fs
NP_001394674.1:p.Glu1023fs
NP_001394675.1:p.Glu1023fs
NP_001394676.1:p.Glu1023fs
NP_001394677.1:p.Glu1023fs
NP_001394678.1:p.Glu1023fs
NP_001394679.1:p.Glu1024fs
NP_001394680.1:p.Glu1024fs
NP_001394681.1:p.Glu1024fs
NP_001394767.1:p.Glu1023fs
NP_001394768.1:p.Glu1023fs
NP_001394770.1:p.Glu1023fs
NP_001394771.1:p.Glu1023fs
NP_001394772.1:p.Glu1023fs
NP_001394773.1:p.Glu1023fs
NP_001394774.1:p.Glu1023fs
NP_001394775.1:p.Glu1023fs
NP_001394776.1:p.Glu1023fs
NP_001394777.1:p.Glu1023fs
NP_001394778.1:p.Glu1023fs
NP_001394779.1:p.Glu1024fs
NP_001394780.1:p.Glu1024fs
NP_001394781.1:p.Glu1024fs
NP_001394782.1:p.Glu1000fs
NP_001394783.1:p.Glu1071fs
NP_001394787.1:p.Glu1071fs
NP_001394788.1:p.Glu1071fs
NP_001394789.1:p.Glu1070fs
NP_001394790.1:p.Glu1070fs
NP_001394791.1:p.Glu1004fs
NP_001394792.1:p.Glu1030fs
NP_001394803.1:p.Glu1003fs
NP_001394804.1:p.Glu1003fs
NP_001394808.1:p.Glu1001fs
NP_001394810.1:p.Glu1001fs
NP_001394811.1:p.Glu1001fs
NP_001394813.1:p.Glu1001fs
NP_001394814.1:p.Glu1001fs
NP_001394815.1:p.Glu1001fs
NP_001394816.1:p.Glu1001fs
NP_001394818.1:p.Glu1001fs
NP_001394823.1:p.Glu1000fs
NP_001394824.1:p.Glu1000fs
NP_001394825.1:p.Glu1000fs
NP_001394826.1:p.Glu1000fs
NP_001394827.1:p.Glu1000fs
NP_001394828.1:p.Glu1000fs
NP_001394829.1:p.Glu1001fs
NP_001394831.1:p.Glu1001fs
NP_001394833.1:p.Glu1001fs
NP_001394835.1:p.Glu1001fs
NP_001394836.1:p.Glu1001fs
NP_001394837.1:p.Glu1001fs
NP_001394838.1:p.Glu1001fs
NP_001394839.1:p.Glu1001fs
NP_001394844.1:p.Glu1000fs
NP_001394845.1:p.Glu1000fs
NP_001394846.1:p.Glu1000fs
NP_001394847.1:p.Glu1000fs
NP_001394848.1:p.Glu1030fs
NP_001394849.1:p.Glu983fs
NP_001394850.1:p.Glu983fs
NP_001394851.1:p.Glu983fs
NP_001394852.1:p.Glu983fs
NP_001394853.1:p.Glu983fs
NP_001394854.1:p.Glu983fs
NP_001394855.1:p.Glu983fs
NP_001394856.1:p.Glu983fs
NP_001394857.1:p.Glu983fs
NP_001394858.1:p.Glu983fs
NP_001394859.1:p.Glu982fs
NP_001394860.1:p.Glu982fs
NP_001394861.1:p.Glu982fs
NP_001394862.1:p.Glu983fs
NP_001394863.1:p.Glu982fs
NP_001394864.1:p.Glu983fs
NP_001394865.1:p.Glu982fs
NP_001394866.1:p.Glu1030fs
NP_001394867.1:p.Glu1030fs
NP_001394868.1:p.Glu1030fs
NP_001394869.1:p.Glu1029fs
NP_001394870.1:p.Glu1029fs
NP_001394871.1:p.Glu1024fs
NP_001394872.1:p.Glu1023fs
NP_001394873.1:p.Glu1024fs
NP_001394874.1:p.Glu1024fs
NP_001394875.1:p.Glu960fs
NP_001394876.1:p.Glu960fs
NP_001394877.1:p.Glu960fs
NP_001394878.1:p.Glu960fs
NP_001394879.1:p.Glu960fs
NP_001394880.1:p.Glu960fs
NP_001394881.1:p.Glu960fs
NP_001394882.1:p.Glu960fs
NP_001394883.1:p.Glu959fs
NP_001394884.1:p.Glu959fs
NP_001394885.1:p.Glu959fs
NP_001394886.1:p.Glu960fs
NP_001394887.1:p.Glu959fs
NP_001394888.1:p.Glu944fs
NP_001394889.1:p.Glu944fs
NP_001394891.1:p.Glu943fs
NP_001394892.1:p.Glu944fs
NP_001394893.1:p.Glu1023fs
NP_001394894.1:p.Glu903fs
NP_001394895.1:p.Glu775fs
NP_001394896.1:p.Glu775fs
NP_009225.1:p.Glu1071Glyfs
NP_009225.1:p.Glu1071fs
NP_009228.2:p.Glu1024fs
NP_009231.2:p.Glu1071fs
LRG_292t1:c.3211dup
LRG_292:g.125664dup
LRG_292p1:p.Glu1071Glyfs
NC_000017.10:g.41244337dup
NM_007294.3:c.3211dup
NM_007294.3:c.3211dupG
NR_027676.1:n.3347dup
p.(Glu1071GlyfsTer4)

Protein change:

E1000fs

Links:

dbSNP: rs397509047

NCBI 1000 Genomes Browser:

rs397509047

Molecular consequence:

NM_001407571.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3202dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3202dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3130dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3130dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3130dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3130dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3133dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3208dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3010dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3007dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3007dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3001dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2947dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3088dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3085dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2878dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2830dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2830dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2827dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2830dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2707dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2323dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2323dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3211dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-181dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-181dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1297dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1288dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679609	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679609

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation analysis of BRCA1 gene in African-American patients with breast cancer.

Shen D, Wu Y, Subbarao M, Bhat H, Chillar R, Vadgama JV.

J Natl Med Assoc. 2000 Jan;92(1):29-35.

PubMed [citation]

PMID:: 10800284
PMCID:: PMC2640500

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679609.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

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